Peut-on modifier les facteurs de risque liés aux gènes modificateurs ?
Certaines modifications du mode de vie peuvent réduire le risque, mais pas tous les facteurs sont modifiables.
Modification du mode de vieRisque génétique
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"@type": "Question",
"name": "Quels tests sont utilisés pour les gènes modificateurs ?",
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"@type": "Question",
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"@type": "Question",
"name": "Les gènes modificateurs affectent-ils les symptômes ?",
"position": 6,
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"@type": "Question",
"name": "Quels symptômes sont liés aux gènes modificateurs ?",
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"acceptedAnswer": {
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"text": "Les symptômes varient selon la maladie, mais incluent souvent des manifestations cliniques variées."
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"@type": "Question",
"name": "Les gènes modificateurs causent-ils des symptômes ?",
"position": 8,
"acceptedAnswer": {
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"text": "Non, ils modifient l'expression des symptômes causés par d'autres gènes."
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"@type": "Question",
"name": "Peut-on prédire les symptômes avec des gènes modificateurs ?",
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"acceptedAnswer": {
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"text": "Partiellement, car ils peuvent influencer la sévérité mais pas toujours la présence des symptômes."
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"@type": "Question",
"name": "Les gènes modificateurs sont-ils liés à des symptômes spécifiques ?",
"position": 10,
"acceptedAnswer": {
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"text": "Oui, certains gènes modificateurs sont associés à des symptômes spécifiques dans certaines maladies."
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"@type": "Question",
"name": "Peut-on prévenir les effets des gènes modificateurs ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est complexe, mais une surveillance et un dépistage précoce peuvent aider."
}
},
{
"@type": "Question",
"name": "Y a-t-il des mesures préventives spécifiques ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des conseils génétiques et des tests peuvent être proposés aux familles à risque."
}
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"@type": "Question",
"name": "Les gènes modificateurs nécessitent-ils une prévention ciblée ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, la prévention peut être ciblée en fonction des gènes modificateurs identifiés."
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"@type": "Question",
"name": "Comment la recherche aide-t-elle à la prévention ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "La recherche sur les gènes modificateurs aide à identifier des stratégies préventives efficaces."
}
},
{
"@type": "Question",
"name": "Les gènes modificateurs influencent-ils le mode de vie préventif ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent guider les recommandations de mode de vie pour réduire les risques."
}
},
{
"@type": "Question",
"name": "Les traitements ciblent-ils les gènes modificateurs ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains traitements peuvent être adaptés en fonction des gènes modificateurs identifiés."
}
},
{
"@type": "Question",
"name": "Comment les gènes modificateurs influencent-ils le traitement ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent déterminer la réponse au traitement et la nécessité d'une approche personnalisée."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements spécifiques pour les gènes modificateurs ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, il n'existe pas de traitements spécifiques, mais des approches personnalisées peuvent être envisagées."
}
},
{
"@type": "Question",
"name": "Les gènes modificateurs affectent-ils l'efficacité des médicaments ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent influencer l'efficacité et les effets secondaires des médicaments."
}
},
{
"@type": "Question",
"name": "Peut-on modifier les gènes modificateurs par traitement ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des recherches sont en cours sur la thérapie génique, mais ce n'est pas encore courant."
}
},
{
"@type": "Question",
"name": "Quels types de complications sont liés aux gènes modificateurs ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications varient selon la maladie, incluant des formes plus graves ou résistantes."
}
},
{
"@type": "Question",
"name": "Les gènes modificateurs augmentent-ils les complications ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent augmenter le risque de complications dans certaines conditions génétiques."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications liées aux gènes modificateurs ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une gestion proactive et personnalisée est essentielle pour minimiser les complications."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles avec des gènes modificateurs ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Partiellement, car certains gènes modificateurs peuvent indiquer un risque accru de complications."
}
},
{
"@type": "Question",
"name": "Les gènes modificateurs sont-ils impliqués dans des complications spécifiques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains gènes modificateurs sont associés à des complications spécifiques dans certaines maladies."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque liés aux gènes modificateurs ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux et des variations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "Les gènes modificateurs augmentent-ils le risque de maladies ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent augmenter le risque de développer certaines maladies génétiques."
}
},
{
"@type": "Question",
"name": "Comment évaluer les facteurs de risque génétiques ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'évaluation se fait par des tests génétiques et des conseils génétiques appropriés."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils les gènes modificateurs ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'environnement peut interagir avec les gènes modificateurs et influencer le risque."
}
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"@type": "Question",
"name": "Peut-on modifier les facteurs de risque liés aux gènes modificateurs ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines modifications du mode de vie peuvent réduire le risque, mais pas tous les facteurs sont modifiables."
}
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}
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, United States of America. Electronic address: llu@uthsc.edu.
Division of Cardiovascular Diseases, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN, United States of America. Electronic address: yasun@uthsc.edu.
The goal of the current study was to investigate the opinions of adult patients with epilepsy (PWE) with regard to the application of epilepsy surgery for their condition....
We surveyed all the consecutive adult PWE with at least one year history of epilepsy who were referred to our neurology clinics (Shiraz University of Medical Sciences) from September 2022 until Januar...
In total, 393 adult PWE participated in the study; 180 patients (45.8%) expressed that they would be willing to have surgery if their epilepsy doctor told them that brain surgery was guaranteed to sto...
Many patients with epilepsy are willing to have epilepsy surgery if their physician presented epilepsy surgery to them as an established safe and effective treatment option. The important values and p...
Many studies focus on knowledge and attitudes of unaffected people towards epilepsy and people with epilepsy (PWE). The perspective of PWE themselves is much less explored....
We invited PWE in Germany to answer a questionnaire on their knowledge and attitudes towards epilepsy and PWE....
The questionnaire was completed by 230 PWE (median age: 40 years; min./max.: 19/83; 66 % female). Of PWE, 22 % thought that PWE are more helpful, and 10 % thought that PWE are friendlier than other pe...
Although positive attitudes of PWE towards other PWE exist, we also found some reservations calling for psychosocial support. Most PWE had sufficient knowledge about risks of certain activities and ab...
This survey aimed to investigate the opinions of the parents of children with epilepsy with regard to the application of epilepsy surgery for their children....
We surveyed all the parents of children with epilepsy referred to our neurology clinic (Shiraz University of Medical Sciences) in April-July 2022. We collected their opinions about epilepsy surgery ba...
In total, 472 people participated in the study; 277 participants (58.7%) were willing to have epilepsy surgery for their child; the most common reason was to be able to discontinue the drugs. Sex (mal...
Most parents of children with epilepsy are willing to have epilepsy surgery for their children if their physician presents epilepsy surgery to them as an established, safe, and effective treatment opt...
Next generation sequencing (NGS) has greatly expanded our understanding of genetic contributors in multiple epilepsy syndromes, including focal epilepsy. Describing the genetic architecture of common ...
Targeted panel sequencing was performed on 96 patients with a strong clinical suspicion of genetic focal epilepsy. Patients had previously gone through a comprehensive diagnostic epilepsy evaluation i...
Six VOI in eight (8/96, 8.3%) patients were found in our cohort. Four likely pathogenic VOI were determined in six (6/96, 6.2%) patients, two DEPDC5 variants in two patients, one SCN1A variant in two ...
Sequencing of only five known epilepsy genes yielded a diagnostic result in 6.2% of our cohort and revealed multiple novel variants. Further research is necessary for a better understanding of the gen...
Anhedonia, the impaired ability to experience pleasure, is a core feature of major depressive disorder, one of the most common comorbidities in epilepsy. It is also reported as a clinical feature inde...
A consecutive sample of 211 people (118 female, 93 male, mean age 38.09 years) completed the Snaith-Hamilton Pleasure Scale (SHAPS) to determine the presence of anhedonia and the Hospital Anxiety and ...
Over one in three of the sample (35%) reported significant anhedonia on the SHAPS. While these patients were more likely to have a diagnosis of depression (p < 0.01), 30% of people without a diagnosis...
While anhedonia is well recognized as a feature of depression, our data suggests that it can be present in up to a third of people with epilepsy who do not have a diagnosis of depression. Cognitive di...
Epilepsy affects over 50 million individuals globally, making it the most prevalent chronic and serious neurological condition. A precise therapeutic strategy is complicated by poor understanding of t...
The incidence rate of epilepsy has importantly increased during the last decades due to the rising expectation of life. Special clinical aspects have to be considered for the correct diagnosis and dif...
Neuropsychological evaluation is an essential component of clinical care for people with epilepsy and also has a specialized role in predicting cognitive outcome after epilepsy surgery. Neuropsycholog...
Family burden (FB) in pediatric patients with drug-resistant epilepsy (DRE) is significantly higher than that in children with non-DRE. Epilepsy surgery is an established approach to treat DRE, and th...
We retrospectively analyzed data of families and pediatric patients with focal structural DRE treated with epilepsy surgery at our epilepsy center from April 2018 to November 2021. We examined the rel...
The study cohort included 31 children with DRE at a mean age of 9 years at surgery (range = 0-16) and a mean epilepsy duration of 3 years (range = 0-14). Cognitive impairment correlated with FB in chi...
In children with DRE, epilepsy surgery reduces FB. Given the considerable impact of families on the development and wellbeing of their children, the impact of epilepsy surgery should be communicated t...
Epilepsy is one of most common chronic neurological disorders, and the antiseizure medications developed by targeting neurocentric mechanisms have not effectively reduced the proportion of patients wi...